Pathogenesis, prevention, diagnosis and treatment of breast cancer.

Breast cancer is the most common cancer affecting women worldwide. Prediction models stratify a woman's risk for developing cancer and can guide screening recommendations based on the presence of known and quantifiable hormonal, environmental, personal, or genetic risk factors. Mammography remains the mainstay breast cancer screening and detection but magnetic resonance imaging and ultrasound have become useful diagnostic adjuncts in select patient populations. The management of breast cancer has seen much refinement with increased specialization and collaboration with multidisciplinary teams that include surgeons, oncologists, radiation oncologists, nurses, geneticist, reconstructive surgeons and patients. Evidence supports a less invasive surgical approach to the staging and management of the axilla in select patients. In the era of patient/tumor specific management, the advent of molecular and genomic profiling is a paradigm shift in the treatment of a biologically heterogenous disease.

[1]  Bernard Rachet,et al.  Cancer survival in five continents: a worldwide population-based study (CONCORD). , 2008, The Lancet. Oncology.

[2]  J. Bryant,et al.  Paclitaxel after doxorubicin plus cyclophosphamide as adjuvant chemotherapy for node-positive breast cancer: results from NSABP B-28. , 2005, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[3]  L. Brinton,et al.  Breast cancer risk associated with proliferative breast disease and atypical hyperplasia , 1993, Cancer.

[4]  Jack Cuzick,et al.  Effect of anastrozole and tamoxifen as adjuvant treatment for early-stage breast cancer: 10-year analysis of the ATAC trial. , 2010, The Lancet. Oncology.

[5]  S Shapiro,et al.  Selection, follow-up, and analysis in the Health Insurance Plan Study: a randomized trial with breast cancer screening. , 1985, National Cancer Institute monograph.

[6]  Yudong D. He,et al.  A Gene-Expression Signature as a Predictor of Survival in Breast Cancer , 2002 .

[7]  Eero Pukkala,et al.  Breast cancer in Belarus and Ukraine after the Chernobyl accident , 2006, International journal of cancer.

[8]  E. Conant,et al.  The impact of a multidisciplinary breast cancer center on recommendations for patient management , 2001, Cancer.

[9]  G. Colditz,et al.  Family history and risk of breast cancer: nurses’ health study , 2012, Breast Cancer Research and Treatment.

[10]  Jean B. Cormack,et al.  Combined screening with ultrasound and mammography vs mammography alone in women at elevated risk of breast cancer. , 2008, JAMA.

[11]  T. McCready,et al.  Breast self-examination and breast awareness: a literature review. , 2005, Journal of clinical nursing.

[12]  Thea D. Tlsty,et al.  Benign breast disease and the risk of breast cancer. , 2005 .

[13]  Marc Buyse,et al.  Adjuvant trastuzumab in HER2-positive breast cancer. , 2011, The New England journal of medicine.

[14]  Y Wang,et al.  Effects of chemotherapy and hormonal therapy for early breast cancer on recurrence and 15-year survival: an overview of the randomised trials , 2005, The Lancet.

[15]  H. D. de Koning,et al.  Efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposition. , 2004, The New England journal of medicine.

[16]  D. L. Preston,et al.  Solid Cancer Incidence in Atomic Bomb Survivors: 1958–1998 , 2007, Radiation research.

[17]  Greg Yothers,et al.  Trastuzumab plus adjuvant chemotherapy for operable HER2-positive breast cancer. , 2005, The New England journal of medicine.

[18]  Dongfeng Zhang,et al.  Physical activity and risk of breast cancer: a meta-analysis of prospective studies , 2013, Breast Cancer Research and Treatment.

[19]  J Chang-Claude,et al.  Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. , 1998, American journal of human genetics.

[20]  P. Gøtzsche,et al.  Regular self-examination or clinical examination for early detection of breast cancer. , 2003, The Cochrane database of systematic reviews.

[21]  R. Carlson NCCN breast cancer clinical practice guidelines in oncology: an update. , 2003, Journal of the National Comprehensive Cancer Network : JNCCN.

[22]  Lihong Qi,et al.  Estrogen plus progestin and breast cancer incidence and mortality in the Women's Health Initiative Observational Study. , 2013, Journal of the National Cancer Institute.

[23]  J. Ranstam,et al.  Breast cancer and breastfeeding: collaborative reanalysis of individual data from 47 epidemiological studies in 30 countries, including 50 302 women with breast cancer and 96 973 women without the disease , 2002, The Lancet.

[24]  J L Kelsey,et al.  Reproductive factors and breast cancer. , 1993, Epidemiologic reviews.

[25]  N. Risch,et al.  Autosomal dominant inheritance of early‐onset breast cancer. Implications for risk prediction , 1994 .

[26]  K Vajda,et al.  [Prognostic factors in breast cancer]. , 1998, Orvosi hetilap.

[27]  B. E. F. Isher,et al.  Twenty-year follow-up of a randomized trial comparing total mastectomy, lumpectomy, and lumpectomy plus irradiation for the treatment of invasive breast cancer. , 2002 .

[28]  Gerald Gartlehner,et al.  Mammography in combination with breast ultrasonography versus mammography for breast cancer screening in women at average risk. , 2013, The Cochrane database of systematic reviews.

[29]  M. Stampfer,et al.  Insulin receptor expression and function in human breast cancer cell lines. , 1992, Cancer research.

[30]  F. Berrino,et al.  Sex Hormone Levels, Breast Cancer Risk, and Cancer Receptor Status in Postmenopausal Women: the ORDET Cohort , 2009, Cancer Epidemiology Biomarkers & Prevention.

[31]  A. Luini,et al.  Sentinel Lymph Node Biopsy in Breast Cancer: Ten-Year Results of a Randomized Controlled Study , 2010, Annals of surgery.

[32]  Umberto Veronesi,et al.  A randomized comparison of sentinel-node biopsy with routine axillary dissection in breast cancer. , 2003, The New England journal of medicine.

[33]  S. Paik,et al.  Association between the 21-gene recurrence score assay and risk of locoregional recurrence in node-negative, estrogen receptor-positive breast cancer: results from NSABP B-14 and NSABP B-20. , 2010, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[34]  Stephen W Duffy,et al.  A breast cancer prediction model incorporating familial and personal risk factors , 2004, Hereditary Cancer in Clinical Practice.

[35]  R. Collins,et al.  Effects of radiotherapy and of differences in the extent of surgery for early breast cancer on local recurrence and 15-year survival: an overview of the randomised trials , 2005, The Lancet.

[36]  Anthony Rhodes,et al.  American Society of Clinical Oncology/College of American Pathologists guideline recommendations for human epidermal growth factor receptor 2 testing in breast cancer. , 2006, Archives of pathology & laboratory medicine.

[37]  Christi J. van Asperen,et al.  Differences and similarities in breast cancer risk assessment models in clinical practice: which model to choose? , 2009, Breast Cancer Research and Treatment.

[38]  V Shane Pankratz,et al.  Evaluation of the Tyrer-Cuzick (International Breast Cancer Intervention Study) model for breast cancer risk prediction in women with atypical hyperplasia. , 2010, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[39]  Thomas E Rohan,et al.  Insulin, insulin-like growth factor-I, and risk of breast cancer in postmenopausal women. , 2009, Journal of the National Cancer Institute.

[40]  S. Edge,et al.  Prognostic factors in breast cancer , 2005 .

[41]  Leif E. Peterson,et al.  Validity of Models for Predicting BRCA1 and BRCA2 Mutations , 2007, Annals of Internal Medicine.

[42]  Giovanni Parmigiani,et al.  BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes. , 2002, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[43]  S. Shapiro,et al.  Evidence on screening for breast cancer from a randomized trial , 1977, Cancer.

[44]  D. Dershaw,et al.  Detection of local recurrence after conservative therapy for breast carcinoma , 1992, Cancer.

[45]  S. Yuasa,et al.  Age at menarche, age at menopause, height and obesity as risk factors for breast cancer: Associations and interactions in an international case‐control study , 1990, International journal of cancer.

[46]  W. Willett,et al.  Moderate alcohol consumption during adult life, drinking patterns, and breast cancer risk. , 2011, JAMA.

[47]  Nazneen Rahman,et al.  Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles , 2006, Nature Genetics.

[48]  M. King,et al.  Breast and Ovarian Cancer Risks Due to Inherited Mutations in BRCA1 and BRCA2 , 2003, Science.

[49]  D. Vanel The American College of Radiology (ACR) Breast Imaging and Reporting Data System (BI-RADS): a step towards a universal radiological language? , 2007, European journal of radiology.

[50]  Edward Azavedo,et al.  Guidelines for International Breast Health and Cancer Control – Implementation Supplement to Cancer Guideline Implementation for Breast Healthcare in Low-Income and Middle-Income Countries Overview of the Breast Health Global Initiative Global Summit 2007 , 2008 .

[51]  D. Evans,et al.  Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening , 2007, Journal of Medical Genetics.

[52]  Lesley McGuffog,et al.  Cancer risks and mortality in heterozygous ATM mutation carriers. , 2005, Journal of the National Cancer Institute.

[53]  T. Nielsen,et al.  Breast cancer subtypes and the risk of local and regional relapse. , 2010, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[54]  J. Kievit,et al.  Effectiveness of routine visits and routine tests in detecting isolated locoregional recurrences after treatment for early-stage invasive breast cancer: a meta-analysis and systematic review. , 2004, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[55]  L. Carey,et al.  Impact of Breast Cancer Molecular Subtypes on Locoregional Recurrence in Patients Treated with Neoadjuvant Chemotherapy for Locally Advanced Breast Cancer , 2011, Annals of Surgical Oncology.

[56]  J Benichou,et al.  Graphs to estimate an individualized risk of breast cancer. , 1996, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[57]  H. Nelson,et al.  Screening for Breast Cancer: An Update for the U.S. Preventive Services Task Force , 2009, Annals of Internal Medicine.

[58]  P. Gøtzsche,et al.  Screening for breast cancer with mammography. , 2013, The Cochrane database of systematic reviews.

[59]  G. Hortobagyi,et al.  Current status of adjuvant systemic therapy for primary breast cancer: Progress and controversy , 1995, CA: a cancer journal for clinicians.

[60]  J. Cuzick,et al.  Anastrozole alone or in combination with tamoxifen versus tamoxifen alone for adjuvant treatment of postmenopausal women with early‐stage breast cancer , 2003, Cancer.

[61]  Richard L Schilsky,et al.  Improved outcomes from adding sequential Paclitaxel but not from escalating Doxorubicin dose in an adjuvant chemotherapy regimen for patients with node-positive primary breast cancer. , 2003, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[62]  S. Paik,et al.  Preoperative chemotherapy: updates of National Surgical Adjuvant Breast and Bowel Project Protocols B-18 and B-27. , 2008, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[63]  A E Giuliano,et al.  Prospective observational study of sentinel lymphadenectomy without further axillary dissection in patients with sentinel node-negative breast cancer. , 2000, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[64]  R Peto,et al.  Effect of radiotherapy after breast-conserving surgery on 10-year recurrence and 15-year breast cancer death: meta-analysis of individual patient data for 10 801 women in 17 randomised trials , 2011, The Lancet.

[65]  B. Mukesh,et al.  Optimal selection of individuals for BRCA mutation testing: a comparison of available methods. , 2006, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[66]  M. Cronin,et al.  A multigene assay to predict recurrence of tamoxifen-treated, node-negative breast cancer. , 2004, The New England journal of medicine.

[67]  Samuel Leung,et al.  Basal-Like Breast Cancer Defined by Five Biomarkers Has Superior Prognostic Value than Triple-Negative Phenotype , 2008, Clinical Cancer Research.

[68]  R. Goldbohm,et al.  Familial breast cancer: collaborative reanalysis of individual data from 52 epidemiological studies including 58 209 women with breast cancer and 101 986 women without the disease , 2001, The Lancet.

[69]  M. Gail,et al.  Projecting individualized probabilities of developing breast cancer for white females who are being examined annually. , 1989, Journal of the National Cancer Institute.

[70]  D. Allred,et al.  Prognostic and predictive factors in breast cancer by immunohistochemical analysis. , 1998, Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc.

[71]  Julian Peto,et al.  Breast cancer and hormone replacement therapy: collaborative reanalysis of data from 51 epidemiological studies of 52 705 women with breast cancer and 108 411 women without breast cancer , 1997, The Lancet.

[72]  H. Lynch,et al.  Breast cancer genetics in an oncology clinic: 328 consecutive patients. , 1986, Cancer genetics and cytogenetics.

[73]  R. Tibshirani,et al.  Gene expression patterns of breast carcinomas distinguish tumor subclasses with clinical implications , 2001, Proceedings of the National Academy of Sciences of the United States of America.

[74]  D. Berry,et al.  Effect of screening and adjuvant therapy on mortality from breast cancer , 2005 .

[75]  K. Kelly,et al.  Breast cancer detection using automated whole breast ultrasound and mammography in radiographically dense breasts , 2009, European Radiology.

[76]  A Howell,et al.  Evaluation of breast cancer risk assessment packages in the family history evaluation and screening programme , 2003, Journal of medical genetics.

[77]  D. Berry,et al.  Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. , 1998, American journal of human genetics.

[78]  J. Hopper,et al.  Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. , 2003, American journal of human genetics.

[79]  G. Colditz,et al.  Cumulative risk of breast cancer to age 70 years according to risk factor status: data from the Nurses' Health Study. , 2000, American journal of epidemiology.

[80]  G. Bonadonna,et al.  Patterns of Relapse and Survival in Operable Breast Carcinoma with Positive and Negative Axillary Nodes , 1978, Tumori.

[81]  Gordon B Mills,et al.  Pretest prediction of BRCA1 or BRCA2 mutation by risk counselors and the computer model BRCAPRO. , 2002, Journal of the National Cancer Institute.

[82]  Scott Davis,et al.  Implementation of the Women's Health Initiative study design. , 2003, Annals of epidemiology.

[83]  Jong-Hyeon Jeong,et al.  Twenty-five-year follow-up of a randomized trial comparing radical mastectomy, total mastectomy, and total mastectomy followed by irradiation. , 2002, The New England journal of medicine.

[84]  D Spiegelman,et al.  Validation of the Gail et al. model of breast cancer risk prediction and implications for chemoprevention. , 2001, Journal of the National Cancer Institute.

[85]  Karla Kerlikowske,et al.  Diagnosis of second breast cancer events after initial diagnosis of early stage breast cancer , 2010, Breast Cancer Research and Treatment.

[86]  D. Hicks,et al.  HER2+ breast cancer: review of biologic relevance and optimal use of diagnostic tools. , 2008, American journal of clinical pathology.

[87]  M. Mathieu,et al.  Malignant breast tumors after radiotherapy for a first cancer during childhood. , 2005, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[88]  A. Giuliano,et al.  Axillary dissection vs no axillary dissection in women with invasive breast cancer and sentinel node metastasis: a randomized clinical trial. , 2011, JAMA.

[89]  R. Gelber,et al.  Treatment with trastuzumab for 1 year after adjuvant chemotherapy in patients with HER2-positive early breast cancer: a 4-year follow-up of a randomised controlled trial. , 2011, The Lancet. Oncology.

[90]  Anthony Rhodes,et al.  American Society of Clinical Oncology/College of American Pathologists guideline recommendations for immunohistochemical testing of estrogen and progesterone receptors in breast cancer. , 2010, Archives of pathology & laboratory medicine.

[91]  C. Mathers,et al.  Estimates of worldwide burden of cancer in 2008: GLOBOCAN 2008 , 2010, International journal of cancer.

[92]  Steven E. Bayer,et al.  A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. , 1994, Science.

[93]  D. Plewes,et al.  Systematic Review: Using Magnetic Resonance Imaging to Screen Women at High Risk for Breast Cancer , 2008, Annals of Internal Medicine.

[94]  A. Jemal,et al.  Cancer statistics, 2013 , 2013, CA: a cancer journal for clinicians.

[95]  D. Evans,et al.  Familial Breast Cancer , 2012, Clinical genetics.

[96]  D. Smetherman,et al.  Screening, imaging, and image-guided biopsy techniques for breast cancer. , 2013, The Surgical clinics of North America.

[97]  C. Criscitiello,et al.  Taxane-based combinations as adjuvant chemotherapy of early breast cancer: a meta-analysis of randomized trials. , 2008, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[98]  Christian A. Rees,et al.  Molecular portraits of human breast tumours , 2000, Nature.

[99]  P. Ravdin,et al.  The c-erbB-2 proto-oncogene as a prognostic and predictive marker in breast cancer: a paradigm for the development of other macromolecular markers--a review. , 1995, Gene.

[100]  I. Gram,et al.  Adiposity, hormone replacement therapy use and breast cancer risk by age and hormone receptor status: a large prospective cohort study , 2012, Breast Cancer Research.

[101]  S. Nathanson,et al.  Multidisciplinary breast cancer clinics , 1997 .

[102]  Les Irwig,et al.  Meta-analysis of the impact of surgical margins on local recurrence in women with early-stage invasive breast cancer treated with breast-conserving therapy. , 2010, European journal of cancer.

[103]  F. Clavel-Chapelon,et al.  Body size and breast cancer risk: Findings from the European prospective investigation into cancer and nutrition (EPIC) , 2004, International journal of cancer.

[104]  D. Freedman,et al.  On the efficacy of screening for breast cancer. , 2004, International journal of epidemiology.

[105]  B Rosner,et al.  Reproductive risk factors in a prospective study of breast cancer: the Nurses' Health Study. , 1994, American journal of epidemiology.

[106]  Melissa M. Hudson,et al.  Systematic Review: Surveillance for Breast Cancer in Women Treated With Chest Radiation for Childhood, Adolescent, or Young Adult Cancer , 2010, Annals of Internal Medicine.

[107]  A. Lindblom,et al.  Family History, and Impact on Clinical Presentation and Prognosis, in a Population-based Breast Cancer Cohort from the Stockholm County , 2006, Familial Cancer.

[108]  Majid Ezzati,et al.  Causes of cancer in the world: comparative risk assessment of nine behavioural and environmental risk factors , 2005, The Lancet.

[109]  Charles M. Perou,et al.  Ki67 Index, HER2 Status, and Prognosis of Patients With Luminal B Breast Cancer , 2009, Journal of the National Cancer Institute.

[110]  R. Scott,et al.  BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer , 2011, Breast Cancer Research and Treatment.

[111]  S. Shapiro,et al.  Periodic breast cancer screening in reducing mortality from breast cancer. , 1971, JAMA.

[112]  Ingvar Andersson,et al.  Long-term effects of mammography screening: updated overview of the Swedish randomised trials , 2002, The Lancet.